Canonical Allele Identifier: CA119079059

Gene: MAP3K1

Linked Data

• dbSNP Id: rs959218240
• gnomAD v3: 5-56881673-A-G
• gnomAD v4: 5-56881673-A-G
• MyVariant Identifiers: chr5:g.56177500A>G (hg19) ; chr5:g.56881673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881673A>G , CM000667.2:g.56881673A>G	GRCh38
NC_000005.9:g.56177500A>G , CM000667.1:g.56177500A>G	GRCh37
NC_000005.8:g.56213257A>G	NCBI36
NG_031884.1:g.71601A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2473A>G MANE Select	ENSP00000382423.3:p.Arg825Gly
ENST00000399503.3:c.2473A>G	ENSP00000382423.3:p.Arg825Gly
NM_005921.1:c.2473A>G	NP_005912.1:p.Arg825Gly
XM_005248519.3:c.2095A>G	XP_005248576.2:p.Arg699Gly
XM_011543406.1:c.2218A>G	XP_011541708.1:p.Arg740Gly
XM_011543407.1:c.2194A>G	XP_011541709.1:p.Arg732Gly
XM_011543408.1:c.2473A>G	XP_011541710.1:p.Arg825Gly
XM_017009484.1:c.2062A>G	XP_016864973.1:p.Arg688Gly
XM_017009485.1:c.1984A>G	XP_016864974.1:p.Arg662Gly
XR_001742068.2:n.2504A>G
NM_005921.2:c.2473A>G MANE Select	NP_005912.1:p.Arg825Gly